Mietens syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MIETENS-WEBER SYNDROME
Intellectual deficit, Mietens-Weber type
Number of Symptoms 39
OrphanetNr: 2557
OMIM Id: 249600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed: 40291001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
3
 (HPO:0000460) Narrow nose 14 / 7739
4
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
5
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
6
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
7
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
8
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
9
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
10
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
11
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
12
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0005093) Absent proximal radial epiphyses 1 / 7739
17
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
18
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
19
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
20
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
21
 (HPO:0001763) Pes planus 176 / 7739
22
 (HPO:0009821) Forearm undergrowth 8 / 7739
23
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
24
 (HPO:0002987) Elbow flexion contracture 64 / 7739
25
 (HPO:0003041) Humeroradial synostosis Frequent [Orphanet] 19 / 7739
26
 (HPO:0003083) Dislocated radial head 35 / 7739
27
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
28
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
29
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
30
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
31
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
32
 (OMIM) Microsclerocornea 1 / 7739
33
 (OMIM) Shortened radii and ulnae 1 / 7739
34
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Mental retardation, mild, some patients (IQ 70-80) 1 / 7739
37
 (OMIM) Narrow, pointed nose 1 / 7739
38
 (OMIM) Pes planus valgus 1 / 7739
39
 (OMIM) Atrophic calf muscles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: